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Table of Contents
Year : 2022  |  Volume : 71  |  Issue : 4  |  Page : 283-287

Numerical chromosomal aberrations in acute lymphoblastic leukemia in North Indians

1 Department of Anatomy, Government Medical College, Kannauj, Uttar Pradesh, India
2 Department of Anatomy, King George's Medical University, Lucknow, Uttar Pradesh, India

Date of Submission22-May-2021
Date of Decision16-Aug-2022
Date of Acceptance30-Sep-2022
Date of Web Publication01-Dec-2022

Correspondence Address:
Dr. Rakesh Kumar Verma
Additional Professor, Department of Anatomy, King George's Medical University, UP, Lucknow, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jasi.jasi_97_21

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Introduction: Alterations in chromosome number have a strong impact on outcome in childhood ALL. Genetic findings may predict the prognosis and biologic properties of the leukemia more consistently than does morphology. To see the numerical aberrations in ALL in North Indian population Material and Methods: Culture and chromosome banding of bone marrow and blood sample of 51 North Indian patients of ALL (44 males and 7 females) from the age group of 2 to 42 years were done. Only 39 shows good chromosomal spread, so 39 karyograms were prepared and observed for the chromosomal gain or loss and their frequency. Results: Numerical abnormalities were observed in 14 patients (35.9%) of the 39 cytogenetically analysed cases. Trisomy 21 was found in 3 cases. Trisomy of chromosome number 13 and 14 were found in 5.12% cases. Trisomy of chromosome number 3, 4, 6, 8, 11, 15, 17 and 18 were present in 2.56% cases (Fig. 21, 30, 31, 34, 35, 42). Gain of chromosome X was seen in 5.12% cases while only in one case (2.56%) gain of chromosome Y was detected. Discussion and Conclusion: Numerical chromosomal abnormality in this study was 15.38% which was different from other population described in previous studies. Trisomy 21 is most common in this study. The findings of the present study may be useful for the clinician in predicting outcome, remission, survival and treatment response in ALL.

Keywords: Acute lymphoblastic leukemia, numerical aberrations, trisomy

How to cite this article:
Shri I, Verma RK, Rani A, Kumar N. Numerical chromosomal aberrations in acute lymphoblastic leukemia in North Indians. J Anat Soc India 2022;71:283-7

How to cite this URL:
Shri I, Verma RK, Rani A, Kumar N. Numerical chromosomal aberrations in acute lymphoblastic leukemia in North Indians. J Anat Soc India [serial online] 2022 [cited 2023 Mar 27];71:283-7. Available from: https://www.jasi.org.in/text.asp?2022/71/4/283/362557

  Introduction Top

Acute lymphoblastic leukemia (ALL) is a malignant transformation and proliferation of lymphoid progenitor cells in bone marrow, blood, and extramedullary sites. The hallmark of ALL is chromosomal abnormalities and genetic alterations involved in the differentiation and proliferation of lymphoid precursor cells. Over two-thirds of childhood, ALL cases demonstrate numerical gains or losses of chromosomes and/or translocation.[1] Genetic findings predict the prognosis and biological properties of leukemia. The association of a high hyperdiploid karyotype with a good prognosis is known for more than 20 years. Conversely, the loss of chromosomes in the near-haploid group indicates a poor outcome.[2]

  Material and Methods Top

The present study was a descriptive type. This study included 51 patients (44 males and 7 females) of age group 2 years to 42 years (5 adult and 46 pediatric cases). Patients were screened in the Department of Pediatrics and the samples were collected from the Department of Pathology. Bone marrow and peripheral blood of diagnosed cases of ALL were taken with their consent. A culture of bone marrow and blood sample was done; a trypsin-Giemsa technique was used for chromosome banding. Karyograms were prepared and 20–25 metaphases were analyzed in each case for various chromosomal anomalies in the Cytogenetic Laboratory of the Department of Anatomy, King George's Medical University, UP, Lucknow, India.

  Observation and Results Top

This study included 51 patients (44 males and 7 females) of age group 2 years to 42 years (5 adult and 46 pediatric cases). Out of 51 ALL patients under study, only 39 cases (76.47%) could provide good chromosomal spread and karyograms were obtained. Among 39 successful cases, 24 exhibited abnormal karyograms (1 adult and 23 pediatric cases) and 15 (38.46%) cases showed normal karyograms. Along with numerical and structural chromosomal anomalies, complex karyograms were also seen. Out of 39 cases, numerical chromosomal abnormalities were noted in 6 cases (15.38%) and structural chromosomal abnormalities were observed in 10 cases (25.64%) and 8 cases (20.51%) showed complex karyogram [Table 1].
Table 1: Distribution of different types of karyogram in analyzed cases

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Numerical abnormalities (hyperdiploidy) were observed in 14 patients (35.9%) of the 39 cytogenetically analyzed cases. Trisomy 21 was found in three cases [Figure 1]. Trisomy of chromosome numbers 13 and 14 was found in 5.12% of cases. Trisomy of chromosome numbers 3, 4, 6, 8, 11, 15, 17, and 18 was present in 2.56% of cases. A gain of chromosome X was seen in 5.12% of cases [Figure 2], while only in one case (2.56%), a gain of chromosome Y was detected [Table 2].
Figure 1: Karyogram-47XY, +21, del 6q, t (8;14)

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Figure 2: Karyogram-47XXX, del 9p

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Table 2: Various numerical anomalies and their distribution in analyzed cases

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  Discussion Top

Ploidy distribution and recurrent translocations are associated with specific morphology and immune-phenotypic pattern in ALL and their prognostic value was confirmed by several studies. The prognostic importance of chromosome findings in ALL concerns demonstration of long-term survival in patients with high hyperdiploid leukemic clones and identification of patients with certain translocations who are at high risk of treatment failure and for whom alternative therapy such as bone marrow transplantation may be desirable.[3]

Current intensive chemotherapies cure about 70% of the children with ALL. On the other hand a significant number of the children are not cured despite intensive treatment. At the same time some highly curable patients are treated too intensively and suffer from unnecessary side effects of the chemo- and radiotherapy applied. In order to further improve the therapeutic results in this disease, we have to distinguish between the cases with a better and a worse prognosis. The initial karyotype (both numerical and structural chromosome abnormalities) proved to be one of the most reliable prognostic parameters, leading to the suggestion of developing genotype-specific therapies.[4]

In a study in West Indian population by Gadhia et al showed 68.57% chromosomal alteration, including numerical and/or structural abnormalities. Hyperploidy was most common numerical abnormality.[5] Shikano observed 6.45% (8 patients) cases of ALL patients with hyperploidy,[6] Raimondi et al. noted 14.38% cases with hyperploidy,[7] and Rokaya et al. reported that hyperploidy was 24.5%.[8] In the present study, hyperploidy was present in 35.90%. Our results were in concordance with previous study by Silva et al. and Udayakumar et al. who reported hyperploidy in 26%–55% of ALL patients, where hyperploidy is the most common abnormality in ALL cases.[9],[10] Comparison with previous studies were shown in [Table 3]. The difference between previous and current findings may be a result of the different comparison groups employed for analysis.
Table 3 : Comparision with previous studies

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The most plausible cause of the gain or loss of a whole chromosome is nondisjunction at mitosis.[11] Hyperdiploidy probably also resulted with the development of tetraploidy that loses of several chromosomes in a stepwise or sequential fashion or undergoes abnormal mitosis or endomitoses to acquire multiple chromosomes.[12]

Uckun et al. previously showed that hyperdiploid leukemic cells had a lower plating efficiency than did pseudodiploid leukemic cells or near diploid leukemic cells with structural chromosome abnormalities, which suggests that hyperdiploid leukemia might be a less aggressive form of leukemia.[13] Hyperdiploid (DNA index between 1.16 and 1.35) leukemic cells showed a higher sensitivity than nonhyperdiploid cells to 6-mercaptopurine, 6-thioguanine, cytarabine, and L-asparaginase.[14]

Trisomy 21 was found in three cases (7.69%), which was the most common trisomy in the present study. Trisomy 21 is the most common trisomy in ALL patients reported by Oláh et al. and Nordgren et al.[4],[15] Jena Rabindra et al. saw a gain of chromosome 21 in 40 South Indian patients.[16] The emerging theory for the role of constitutional trisomy 21 in leukemia predisposition is that genes on this chromosome contribute to the expansion of hematopoietic compartments during early development that results in an increased pool of potential tumor precursor cells.[17] Gain of chromosome X was seen in two cases (5.13%) in our study which was also reported by Raimondi et al. in 3% of cases.[7] In the present study, trisomy of chromosome 14 was reported in two cases (5.13%). Oláh et al. and Nordgren et al. found trisomy of chromosome 14 as a frequently occurring chromosomal aberration.[4],[15] In our study, trisomy 13 was present in two cases (5.13%). This trisomy was also seen by Oláh et al. and Heerema et al. as a less frequently occurring chromosomal anomaly.[4],[18] Trisomy 13 occurring as a single cytogenetic abnormality has been associated with undifferentiated or biphenotypic acute leukemias and with an adverse prognostic outcome. Trisomies of chromosomes 3, 4, 6, 8, 11, 15, 17, and 18 were noted in this study, each with one case. This was also noted by Oláh et al., and Heerema et al. in ALL patients.[4],[18] Reddy et al observed most common numerical abnormalities involving chromosomes 4, 9, 10, 11, 16, 22 and X.[19]

Jena Rabindra et al. documented trisomy 11 as a frequently occurring chromosomal anomaly in the South Indian population.[16] Jha et al found trisomy in 21.42% cases and polyploidy in 7.1% cases.[20] Trisomy of chromosome 4 was also documented by Raimondi et al. and Nordgren et al.[15],[21] Trisomy 8 was also reported previously by Hrusák et al. and Bakshi et al.[22],[23] Genes with possible significance in leukemogenesis located on chromosome 8 includes c-myc,[24] on 8q24, c-mos,[25] on 8q22, MOZ,[26] on 8p11, and ETO on 8q22.[27] Trisomy 8 could represent an alternative mechanism for increasing C-MYC gene dosage to achieve amplification of C-MYC oncogene.[28] Stephen and Rowe reported trisomy 15 and according to them, it appears to occur most frequently in myelodysplasia.[29] The combination of trisomy of chromosome 10 and trisomy of chromosome 17 predicted improved outcomes compared with either trisomy alone and particularly compared with the outcome of patients lacking both trisomies.[18] Trisomy 18 was also reported in many previous studies such as Raimondi et al., Malekasgar et al.,[21],[30] and Jackson et al. suggested that trisomy of chromosome 6 was a favorable risk factor for childhood ALL.[31] A single case of gain of chromosome Y was noted in the present study, which was reported in past by Gibbons et al.[32]

  Conclusion Top

Numerical chromosomal abnormality in this study was 15.38% which was different from other populations described in previous studies. Hyperdiploidy was present in 35.90% of cases in the present study. Trisomy 21 is the most common (7.69% cases) trisomy in the present study. Gain of chromosome X and trisomy of chromosome 13.14 were observed in the present study, each with two cases. Gain of chromosome Y and trisomies of chromosomes 3, 4, 6, 8, 11, 15, 17, and 18 were noted in this study, each with one case. There was a random distribution of various chromosomal anomalies in different age groups and sex in the present study. The findings of the present study may be useful to pediatricians and physicians in predicting outcome, remission, survival, and treatment response in ALL.


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Conflicts of interest

There are no conflicts of interest.

  References Top

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  [Figure 1], [Figure 2]

  [Table 1], [Table 2], [Table 3]


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